FETAL ABNORMALITIES AND PROGNOSIS ASSOCIATED WITH INCREASED NUCHAL TRANSLUCENCY AND ABNORMAL KARYOTYPE

OBJECTIVES. This study aimed to evaluate the incidence of chromosomal abnormalities in features with increased nuchal translucency (NT) measurement. Incidence of structural abnormalities and pregnancy outcome was also described in fetuses with increased NT and abnormal karyotype. METHODS. This was a retrospective study involving 246 fetuses with increased NT and known karyotype followed at the Fetal Medicine Unit, Hospital das Clinicas, Sao Paulo University Medical School. RESULTS. Fetal karyotype was abnormal in 14.2% of the cases. Ultrasound anomaly scan and specialized echocardiographic studies in these cases showed fetal structural abnormalities in 80.8% and cardiac defects were found in 61.5% of the fetuses. Pregnancy outcome was abnormal in 76.5% of these women. CONCLUSION. Increased NT measurement at 11 to 13 weeks and 6 days is an important market for fetal chromosomal and structural abnormalities, mainly fetal cardiac defects. This finding also indicates increased risk of spontaneous fetal and neonatal death. [Rev Assoc Med Brras 2009; 55(1): 54-9]